Cervical dystonia is a form of abnormal movement characterized by abnormal head and neck posi8on caused by involuntary contrac8on of neck muscles.
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2 Cervical dystonia is a form of abnormal movement characterized by abnormal head and neck posi8on caused by involuntary contrac8on of neck muscles. This may result in sustained abnormal posi8on or jerky repe88ve movements mimicking tremor. 2
3 Cervical dystonia more commonly effects women than men and usually begins in middle age, typically between the ages of 30 and 60 though it may begin in younger individuals or in the elderly. The head tends to presume a dominant posi8on with either turning, 8l8ng, or shieing of the neck to one side or the other. The movements are a result in sustained abnormal posturing, jerky tremulous- like movements or a combina8on of both sustained posture plus jerky movements. 3
4 A variety of different abnormal head postures may be seen. Tor8collis refers to turning of the head to the right or lee. Laterocollis means 8l8ng of the head to the right or lee. 4
5 Retrocollis refers to pulling of the head backward, and anterocollis 8l8ng of the head forward. In addi8on, the head may shie laterally or to the sides toward one shoulder or the other or may shie forward - like a duck may move their head forward or backward. Forward and backward shie of the neck is referred to as sagimal shie. 5
6 The abnormal contrac8ons of the neck may also involve the shoulder resul8ng in shoulder eleva8on or forward devia8on. Jerky tremulous- like movements oeen occur and the majority of pa8ents have associated neck and shoulder pain. Pain in some pa8ents may be even more disabling than the abnormal movements. Symptoms of cervical dystonia gradually come on over one to two years and then tend to stabilize. Remission is seen in only a small percentage of pa8ents, and even in those in whom remission occurs, the symptoms typically come back. Cervical dystonia can occur by itself and is then considered a focal cervical dystonia or can be part of more widespread dystonia. When cervical dystonia is combined with dystonia involving the face, it is referred to as craniocervical segmental dystonia. Cervical dystonia may also occur as part of widespread dystonia involving several limbs and the trunk, in which case it is part of generalized dystonia. 6
7 When cervical dystonia remains focal and does not involve other areas of the body, it is generally idiopathic; meaning we do not know the underlying cause. It is thought that in most of these cases, there is an underlying gene8c cause, but we have not yet iden8fied the gene. Recently, three different genes have been iden8fied that may cause familial isolated cervical dystonia, but it is thought that these genes account for only a very small percentage of pa8ents who have focal cervical dystonia. Cervical dystonia may also occur due to acquired causes such as exposure to dopamine- blocking drugs or rarely due to head or neck trauma. There is some controversy as to whether or not posmrauma8c cervical dystonia is the same disorder as cervical dystonia, which comes on unassociated with trauma. 7
8 The majority of pa8ents with cervical dystonia are ini8ally misdiagnosed as having a s8ff neck or arthri8s involving the neck. When jerky or tremulous movements are present resul8ng in dystonic head tremor, pa8ents are oeen misdiagnosed as having essen8al head tremor. Given the fact that no specific tests are available to make the diagnosis and the diagnosis based on careful history and examina8on, it is important to see a neurologist or other physician who specializes in movement disorders to be certain of having an accurate diagnosis. 8
9 Unfortunately, no cure is available for focal cervical dystonia and all of our treatments are aimed at reducing symptoms and improving quality of life. Specifically, the available treatments may improve the abnormal head posi8oning and jerky movements, reduce pain, and help to reduce development of secondary complica8ons such as accelerated neck arthri8s. There are three main forms of treatment: Botulinum toxin injec8ons are the standard first- line treatment. Oral medica8ons may be used typically in pa8ents who do not have an adequate response to botulinum toxin injec8ons alone. Focal surgery to cut different nerves and muscles or deep brain s8mula8on may be used in pa8ents with severe dystonia who do not have an adequate response to more conserva8ve treatments. 9
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